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[第二代测序技术及其在法医遗传学中的应用综述]

[Review of Second Generation Sequencing and Its Application in Forensic Genetics].

作者信息

Zhang S H, Bian Y N, Zhao Q, Li C T

机构信息

Shanghai Key Laboratory of Forensic Medicine, Shanghai Forensic Service Platform, Institute of Forensic Science, Ministry of Justice, P.R.China, Shanghai 200063, China.

出版信息

Fa Yi Xue Za Zhi. 2016 Aug;32(4):282-289. doi: 10.3969/j.issn.1004-5619.2016.04.012. Epub 2016 Aug 25.

Abstract

The rapid development of second generation sequencing (SGS) within the past few years has led to the increasement of data throughput and read length while at the same time brought down substantially the sequencing cost. This made new breakthrough in the area of biology and ushered the forensic genetics into a new era. Based on the history of sequencing application in forensic genetics, this paper reviews the importance of sequencing technologies for genetic marker detection. The application status and potential of SGS in forensic genetics are discussed based on the already explored SGS platforms of Roche, Illumina and Life Technologies. With these platforms, DNA markers (SNP, STR), RNA markers (mRNA, microRNA) and whole mtDNA can be sequenced. However, development and validation of application kits, maturation of analysis software, connection to the existing databases and the possible ethical issues occurred with big data will be the key factors that determine whether this technology can substitute or supplement PCR-CE, the mature technology, and be widely used for cases detection.

摘要

在过去几年中,第二代测序技术(SGS)的迅速发展提高了数据通量和读长,同时大幅降低了测序成本。这在生物学领域取得了新突破,并引领法医遗传学进入了一个新时代。基于测序技术在法医遗传学中的应用历史,本文回顾了测序技术对于遗传标记检测的重要性。基于已探索的罗氏、Illumina和Life Technologies公司的SGS平台,讨论了SGS在法医遗传学中的应用现状和潜力。利用这些平台,可以对DNA标记(SNP、STR)、RNA标记(mRNA、微小RNA)和整个线粒体DNA进行测序。然而,应用试剂盒的开发与验证、分析软件的成熟、与现有数据库的连接以及大数据可能引发的伦理问题,将是决定该技术能否替代或补充成熟技术PCR-CE并广泛应用于案件检测的关键因素。

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